Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003474507 | SCV004212293 | likely pathogenic | Pituitary adenoma 5, multiple types | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003549104 | SCV004274933 | pathogenic | not provided | 2023-06-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with deafness (PMID: 35020051). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser3157Argfs*58) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). |